Variant report

Variant	rs4982429
Chromosome Location	chr14:21685514-21685515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21681110-21686824	K562	blood:	n/a	n/a
2	POLR2A	chr14:21685182-21685807	GM12878	blood:	n/a	n/a
3	CTCF	chr14:21685480-21685630	HMF	breast:	n/a	n/a
4	NFATC1	chr14:21684639-21685667	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:21681562-21688502	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:21682516-21685803	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:21684990-21685837	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:21683756-21686835	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21683942..21686435-chr14:21849185..21850784,2	MCF-7	breast:
2	chr14:21679834..21681471-chr14:21683651..21685737,2	K562	blood:
3	chr14:21682920..21686919-chr14:21693629..21695651,3	MCF-7	breast:
4	chr14:21684971..21687405-chr14:21736664..21738674,3	MCF-7	breast:
5	chr14:21680608..21683274-chr14:21683890..21685747,2	MCF-7	breast:
6	chr14:21679501..21682581-chr14:21683492..21686432,4	K562	blood:
7	chr14:21678068..21679716-chr14:21682875..21685617,2	K562	blood:
8	chr14:21680490..21682250-chr14:21684658..21687310,2	MCF-7	breast:
9	chr14:21682936..21686679-chr14:21688141..21690652,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17113516	0.80[CEU][hapmap]
rs17792558	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28698963	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827934	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982432	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61979498	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv541981	chr14:21676221-21727801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	nsv974314	chr14:21679868-21701353	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
2	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
6	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:21671600-21686000	Strong transcription	HUVEC	blood vessel
9	chr14:21671600-21688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:21672200-21696600	Strong transcription	Primary B cells from cord blood	blood
11	chr14:21672400-21696000	Strong transcription	Adipose Nuclei	Adipose
12	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:21672800-21685800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:21672800-21699400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:21672800-21699400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:21673000-21687600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:21673000-21702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:21673000-21702800	Strong transcription	Fetal Intestine Large	intestine
22	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:21674000-21696200	Weak transcription	Fetal Brain Male	brain
25	chr14:21674200-21695400	Strong transcription	Fetal Kidney	kidney
26	chr14:21674200-21698600	Strong transcription	Dnd41	blood
27	chr14:21674600-21687600	Strong transcription	Hela-S3	cervix
28	chr14:21674600-21698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:21676400-21687400	Weak transcription	Fetal Heart	heart
30	chr14:21677000-21700400	Strong transcription	Liver	Liver
31	chr14:21677800-21686000	Strong transcription	HepG2	liver
32	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:21678400-21688000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:21680400-21685600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:21680400-21686200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:21680600-21686200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:21680800-21688000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:21680800-21688200	Weak transcription	Stomach Mucosa	stomach
39	chr14:21680800-21691200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:21681000-21686200	Weak transcription	Pancreas	Pancrea
41	chr14:21681000-21686200	Weak transcription	Psoas Muscle	Psoas
42	chr14:21681000-21714000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr14:21681200-21685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:21681200-21686200	Weak transcription	Lung	lung
45	chr14:21681200-21686600	Weak transcription	Aorta	Aorta
46	chr14:21681200-21687400	Weak transcription	Brain Substantia Nigra	brain
47	chr14:21681200-21688000	Weak transcription	Ovary	ovary
48	chr14:21681200-21689200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:21681200-21690800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:21681200-21697000	Weak transcription	Right Ventricle	heart

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